A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0393-260.pdf
Reference38 articles.
1. Gitelman, S.E., Bristow, J. & Miller, W.L. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Molec. cell. Biol. 12, 2124–2134 (1992).
2. Strachan, T. Molecular genetics of congenital adrenal hyperplasia. Trends endocrin. Metab. 1, 68–72 (1989).
3. Strachan, T. & White, P.C. Molecular pathology of steroid 21-hydroxylase deficiency. J. Ster. Biochem. molec. Biol. 40, 537–543 (1991).
4. Collier, S. et al. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 repeats in 21-hydroxylase deficiency haplotypes. EMBO J. 8, 1393–1402 (1989).
5. Sinnott, P. et al. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency. Proc. natn. Acad. Sci. U.S.A. 87, 2107–2111 (1990).
Cited by 68 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype–phenotype correlation using next generation sequencing in Southeastern Anatolia;Journal of Endocrinological Investigation;2021-03-06
2. Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China;Steroids;2019-11
3. Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka;Orvosi Hetilap;2018-02
4. A de novo mutation in CYP21A2 gene in a case of in vitro fertilization;Molecular Genetics and Metabolism Reports;2015-12
5. Genetic Disorders of the Adrenal Gland;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3